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• W2132472593 abstract "Background. Dent's disease is characterized by low‐molecular‐weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The disease is caused by mutations in the X‐linked chloride channel CLCN5 gene, which encodes a 746‐amino‐acid protein expressed in renal tubules. These mutations have been reported in unrelated families from the UK, USA, Japan and other countries. We were interested in identifying additional mutations in the CLCN5 coding region of Spanish patients with Dent's disease." @default.
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• W2132472593 date "2003-04-01" @default.
• W2132472593 modified "2023-10-18" @default.
• W2132472593 title "Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease" @default.
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• W2132472593 doi "https://doi.org/10.1093/ndt/gfg016" @default.
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